Proteome analysis for spinocerebellar ataxia type 31
| Project/Area Number |
24591255
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Shinshu University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
OYANAGI Kiyomitsu 信州大学, 医学部, 特任教授 (00134958)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 脊髄小脳失調症31型 / プルキンエ細胞 / Golgi装置断片化 / RNA結合蛋白 / 蛋白-RNA結合 / 脊髄小脳失調症 / 繰り返し配列 |
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| Outline of Final Research Achievements |
We performed neuropathological examinations on two autopsied brains from patients with spinocerebellar ataxia type 31 (SCA31). We found there were two degenerating pathways of Purkinje cells with or without halo-like structures. In Purkinje cells with halo-like structures, the nuclear deformity and fragmentation of the Golgi apparatus were more frequently observed than in those without halo-like structures.
Using biotin-labeled (UGGAA)n probe, we tried to identify proteins that bound to pre-messenger RNA with abnormally expanded (UGGAA) repeat in SCA31 brains. As a result, a protein identified in our experiments was a mitochondrial inner membrane protein. This might be false positive, but based on neuropathological observations, it is possible that abnormal pre-messenger RNA could pass through fragile nuclear membrane and interact with proteins involving cytoplasmic organelles in SCA31.
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Report
(4 results)
Research Products
(16 results)
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[Journal Article] A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan.2014
Author(s)
Yasui K, Yabe I, Yoshida K, Kanai K, Arai K, Ito M, Onodera O, Koyano S, Isozaki E, Sawai S, Adachi Y, Sasaki H, Kuwabara S, Hattori T, Sobue G, Mizusawa H, Tsuji S, Nishizawa M, Nakashima K.
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Journal Title
Orphanet Jounal of Rare Diseases
Volume: 9
Issue: 1
Pages: 118-118
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014
Author(s)
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
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Journal Title
Sci Rep
Volume: 4
Issue: 1
Pages: 7132-7132
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Presentation] 脊髄小脳失調症31型の自然史2014
Author(s)
中村勝哉, 吉田邦広, 清水雄策, 兼子一真, 佐藤俊一, 矢彦沢裕之, 森田洋, 大原慎司, 矢沢正信, 牛山雅夫, 佐藤充人, 宮崎大吾, 井上敦, 池田修一.
Organizer
第55回日本神経学会学術大会
Place of Presentation
福岡（福岡国際会議場、福岡サンパレス、福岡国際センター）
Year and Date
2014-05-21 – 2014-05-24
Related Report
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